Cell Biology Antibodies 17

Anti-CLN6 Antibody (CAB18467)

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SKU:
CAB18467
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology

Description

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Antibody Name:Anti-CLN6 Antibody
Antibody SKU:CAB18467
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant protein of human CLN6.
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:
Immunogen:Recombinant protein of human CLN6.
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:54982
Uniprot:Q9NWW5
Cellular Location:
Calculated MW:
Observed MW:Refer to figures
Synonyms:CLN4A, HsT18960, nclf, CLN6
Background:
UniProt Protein Function:CLN6: Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6). A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A). An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.
UniProt Protein Details:

Protein type:Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 15q23

Cellular Component: endoplasmic reticulum; endoplasmic reticulum lumen; endoplasmic reticulum membrane; integral to membrane; membrane

Molecular Function:protein binding; protein homodimerization activity

Biological Process: cellular macromolecule catabolic process; cholesterol metabolic process; ganglioside metabolic process; glycosaminoglycan metabolic process; locomotion during locomotory behavior; lysosomal lumen acidification; positive regulation of proteolysis; protein catabolic process; visual perception

Disease: Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive; Ceroid Lipofuscinosis, Neuronal, 6

NCBI Summary:This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
UniProt Code:Q9NWW5
NCBI GenInfo Identifier:8923532
NCBI Gene ID:54982
NCBI Accession:NP_060352.1
UniProt Secondary Accession:Q9NWW5,Q6IAB1, Q96SR0, A8K560, B4DDH6,
UniProt Related Accession:Q9NWW5
Molecular Weight:39,484 Da
NCBI Full Name:ceroid-lipofuscinosis neuronal protein 6
NCBI Synonym Full Names:ceroid-lipofuscinosis, neuronal 6, late infantile, variant
NCBI Official Symbol:CLN6  
NCBI Official Synonym Symbols:nclf; CLN4A; HsT18960  
NCBI Protein Information:ceroid-lipofuscinosis neuronal protein 6
UniProt Protein Name:Ceroid-lipofuscinosis neuronal protein 6
Protein Family:Ceroid-lipofuscinosis neuronal protein
UniProt Gene Name:CLN6  
UniProt Entry Name:CLN6_HUMAN
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